ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.3941C>T (p.Ser1314Leu)

dbSNP: rs2103780749
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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 RCV001914251 SCV002195230 uncertain significance Alstrom syndrome 2022-07-12 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1420403). This variant has not been reported in the literature in individuals affected with ALMS1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 1315 of the ALMS1 protein (p.Ser1315Leu).
Ambry Genetics RCV004044059 SCV003620521 uncertain significance Cardiovascular phenotype 2022-05-20 criteria provided, single submitter clinical testing The c.3944C>T (p.S1315L) alteration is located in exon 8 (coding exon 8) of the ALMS1 gene. This alteration results from a C to T substitution at nucleotide position 3944, causing the serine (S) at amino acid position 1315 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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