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NC_000017.10:g.(?_48243138)_48245027del AND Autosomal recessive limb-girdle muscular dystrophy type 2D

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 16, 2020
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001380701.2

Allele description [Variation Report for NC_000017.10:g.(?_48243138)_48245027del]

NC_000017.10:g.(?_48243138)_48245027del

Gene:
SGCA:sarcoglycan alpha [Gene - OMIM - HGNC]
Variant type:
Deletion
Preferred name:
NC_000017.10:g.(?_48243138)_48245027del
HGVS:
  • NC_000017.10:g.(?_48243138)_48245027del
  • NC_000017.10:g.(?_48243138)_48245027del
  • NC_000017.10:g.(?_48243138_48245027del

Condition(s)

Name:
Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMDR3)
Synonyms:
ADHALINOPATHY, PRIMARY; Limb-girdle muscular dystrophy, type 2D; Muscular dystrophy limb-girdle with alpha-sarcoglycan; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011968; MedGen: C2936332; Orphanet: 62; OMIM: 608099

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001578831Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Sep 16, 2020) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D).

Carrié A, Piccolo F, Leturcq F, de Toma C, Azibi K, Beldjord C, Vallat JM, Merlini L, Voit T, Sewry C, Urtizberea JA, Romero N, Tomé FM, Fardeau M, Sunada Y, Campbell KP, Kaplan JC, Jeanpierre M.

J Med Genet. 1997 Jun;34(6):470-5.

PubMed [citation]
PMID:
9192266
PMCID:
PMC1050969

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001578831.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This variant results in the deletion of exons 1-2 and part of exon 3 (c.-261_245del) of the SGCA gene. This is expected to result in an absent or disrupted protein product. This variant has been observed in individual(s) with clinical features of muscular dystrophy (Invitae). Loss-of-function variants in SGCA are known to be pathogenic (PMID: 9192266). For these reasons, this variant has been classified as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 5, 2023