ClinVar Miner

Submissions for variant NM_170784.3(MKKS):c.1028G>A (p.Ser343Asn)

gnomAD frequency: 0.00016  dbSNP: rs558813240
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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 RCV001981975 SCV002217300 uncertain significance Bardet-Biedl syndrome; McKusick-Kaufman syndrome 2022-07-11 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 343 of the MKKS protein (p.Ser343Asn). This variant is present in population databases (rs558813240, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with MKKS-related conditions. ClinVar contains an entry for this variant (Variation ID: 1432275). 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.
New York Genome Center RCV002468361 SCV002764423 uncertain significance McKusick-Kaufman syndrome; Bardet-Biedl syndrome 6 2021-10-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004734352 SCV005356084 uncertain significance MKKS-related disorder 2024-08-16 no assertion criteria provided clinical testing The MKKS c.1028G>A variant is predicted to result in the amino acid substitution p.Ser343Asn. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.12% of alleles in individuals of South Asian descent in gnomAD. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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