ClinVar Miner

Submissions for variant NM_015340.4(LARS2):c.1886C>T (p.Thr629Met)

gnomAD frequency: 0.00001  dbSNP: rs398123036
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
INGEBI, INGEBI / CONICET RCV001544530 SCV001763576 pathogenic Nonsyndromic genetic hearing loss 2021-07-15 criteria provided, single submitter clinical testing Based on ACMG/AMP guidelines and Hearing Loss Expert Panel specific criteria: The filtering allele frequency of the T629M in the LARS2 gene is 0.005% ( 5/35406 with 95% CI) in latino population in gnomAD database meeting PM2. This variant has been found at least in two patients in trans with pathogenic variants and seggregated in two siblings (PM3_Strong, PP1, PP4; PMID: 23541342 and internal data). Functional studies in yeast are not conclusive evidence of mutation pathogenicity so this information is not counted. PM2, PM3_Strong, PP1_Sup, PP4: T629M is classified as Likely Pathogenic.
OMIM RCV000049286 SCV000077544 pathogenic Perrault syndrome 4 2013-04-04 no assertion criteria provided literature only
GeneReviews RCV002513678 SCV003525958 not provided Perrault syndrome no assertion provided literature only

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