ClinVar Miner

Submissions for variant NM_017777.4(MKS1):c.509G>A (p.Arg170Gln)

gnomAD frequency: 0.00001  dbSNP: rs369388608
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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) RCV000283022 SCV000345692 uncertain significance not provided 2016-08-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001859731 SCV002248947 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-07-21 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 170 of the MKS1 protein (p.Arg170Gln). This variant is present in population databases (rs369388608, gnomAD 0.006%). 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: 291016). 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 MKS1 protein function. 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.
PreventionGenetics, part of Exact Sciences RCV004537618 SCV004117250 uncertain significance MKS1-related disorder 2023-05-02 criteria provided, single submitter clinical testing The MKS1 c.509G>A variant is predicted to result in the amino acid substitution p.Arg170Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0058% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/17-56292108-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Fulgent Genetics, Fulgent Genetics RCV005025444 SCV005647372 uncertain significance Bardet-Biedl syndrome 13; Meckel syndrome, type 1; Joubert syndrome 28 2024-04-22 criteria provided, single submitter clinical testing

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