ClinVar Miner

Submissions for variant NM_004230.4(S1PR2):c.107C>T (p.Ala36Val)

gnomAD frequency: 0.00002  dbSNP: rs747663144
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002050092 SCV002114338 uncertain significance not provided 2022-10-25 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1346351). This variant has not been reported in the literature in individuals affected with S1PR2-related conditions. This variant is present in population databases (rs747663144, gnomAD 0.004%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 36 of the S1PR2 protein (p.Ala36Val).
Ambry Genetics RCV003247041 SCV003939044 uncertain significance Inborn genetic diseases 2023-06-13 criteria provided, single submitter clinical testing The c.107C>T (p.A36V) alteration is located in exon 2 (coding exon 1) of the S1PR2 gene. This alteration results from a C to T substitution at nucleotide position 107, causing the alanine (A) at amino acid position 36 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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