ClinVar Miner

Submissions for variant NM_017777.4(MKS1):c.32G>C (p.Gly11Ala)

dbSNP: rs375223375
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732651 SCV000860627 uncertain significance not provided 2018-04-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001369000 SCV001565426 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces glycine with alanine at codon 11 of the MKS1 protein (p.Gly11Ala). The glycine residue is moderately conserved and there is a small physicochemical difference between glycine and alanine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with MKS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 596728). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002535287 SCV003645427 uncertain significance Inborn genetic diseases 2022-08-17 criteria provided, single submitter clinical testing The c.32G>C (p.G11A) alteration is located in exon 1 (coding exon 1) of the MKS1 gene. This alteration results from a G to C substitution at nucleotide position 32, causing the glycine (G) at amino acid position 11 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001825474 SCV002088732 uncertain significance Meckel syndrome, type 1 2020-04-04 no assertion criteria provided clinical testing

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