ClinVar Miner

Submissions for variant NM_004174.4(SLC9A3):c.914C>T (p.Ser305Leu)

dbSNP: rs1456737648
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003120537 SCV003786457 uncertain significance not provided 2022-05-09 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SLC9A3-related conditions. This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 305 of the SLC9A3 protein (p.Ser305Leu). This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 996652). 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: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available"). 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.
University of Washington Center for Mendelian Genomics, University of Washington RCV001291275 SCV001479716 association Autism spectrum disorder no assertion criteria provided research

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