ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.109G>T (p.Ala37Ser)

dbSNP: rs606231410
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003556192 SCV004293290 pathogenic not provided 2023-08-04 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 160366). This missense change has been observed in individual(s) with autosomal recessive deafness (PMID: 25633957). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 37 of the COL11A2 protein (p.Ala37Ser). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt COL11A2 protein function. For these reasons, this variant has been classified as Pathogenic.
Centre de Biotechnologie de Sfax, Université de Sfax RCV000148342 SCV000190694 pathogenic Nonsyndromic Deafness 2014-04-01 no assertion criteria provided research
OMIM RCV000202598 SCV000257536 pathogenic Autosomal recessive nonsyndromic hearing loss 53 2015-01-30 no assertion criteria provided literature only

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