ClinVar Miner

Submissions for variant NM_005259.3(MSTN):c.163G>A (p.Ala55Thr)

gnomAD frequency: 0.04003  dbSNP: rs1805085
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000055913 SCV000425780 benign Myostatin-related muscle hypertrophy 2018-02-13 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
PreventionGenetics, part of Exact Sciences RCV003974941 SCV004791147 benign MSTN-related condition 2020-01-21 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
GeneReviews RCV000055913 SCV000086924 not provided Myostatin-related muscle hypertrophy no assertion provided literature only

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