Submissions for variant NM_172095.4(CATSPER2):c.920G>C (p.Trp307Ser)

gnomAD frequency: 0.00232  dbSNP: rs146701338

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000480645	SCV000572117	uncertain significance	not provided	2016-11-01	criteria provided, single submitter	clinical testing	The W307S variant in the CATSPER2 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. Although not present in the homozygous state, the NHLBI ESP Exome Sequencing Project reports W307S was observed in 33/8544 alleles (0.4%) from individuals of European ancestry, indicating it may be a rare variant in this population. The W307S variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution also occurs at a position that is conserved across mammalian species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret W307S as a variant of uncertain significance.
CeGaT Center for Human Genetics Tuebingen	RCV000480645	SCV004136508	likely benign	not provided	2025-02-01	criteria provided, single submitter	clinical testing	CATSPER2: BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000480645	SCV005193758	uncertain significance	not provided		criteria provided, single submitter	not provided
MAGI's Lab - Research, MAGI Group	RCV001327948	SCV001432726	uncertain significance	Infertility disorder		no assertion criteria provided	provider interpretation